A man whose wife is fighting an extremely rare, life-threatening disease has appealed to the public to help her secure a drug that could turn her life around.
Mother-of-one Charlotte Connolly, 47, was diagnosed with Systemic Degos disease early last year, after undergoing a barrage of tests over the last four years.
It is a condition where the small blood vessels break down, and Charlotte’s is the only known case in Ireland.
Since its discovery in the 1940s, there have been just 150 known cases. Charlotte, from Mullingar, Co Westmeath, is one of only 40 people in the world living with the disease.
Her husband Declan gave up his job a year ago to become her full-time carer as she suffered significant disability due to the disease.
Her consultant at St James’s Hospital in Dublin, Dr Siobhán Hutchinson, believes Charlotte could benefit from the potentially life-saving drug Soliris (Eculizumab) that costs €430,000 per patient per year.
However, the hospital’s clinical director, Professor Patrick Plunkett, refused to give the go-ahead for Charlotte to be given Soliris.
Prof Plunkett said he was concerned that as the drug was “off licence”, the risk of using it fell entirely on the practitioner and the hospital. The prohibitive cost of the drug would also have a significant adverse effect on the ability of the hospital to give care to other patients. Limited published evidence was far from convincing that there would be a major positive impact on the patient and it was, at best, a form of ‘temporising’ therapy.
Last year the Government bowed to patient pressure by approving Soliris, used to treat two rare blood diseases, at an annual cost of €430,000 per patient, even though the HSE described its costs as ‘astronomical’. Declan, who is to appeal the hospital’s decision, said: “We find ourselves in an awful situation.
“We decided to go public because Charlotte cannot afford to wait. Time is precious and it is not on her side.”
While he accepts the treatment is experimental and might fail, he cannot accept that a treatment his wife could benefit from should be withheld on financial grounds.
Declan said Soliris was considered because six patients in the US had been taking it. It had been successful in stalling the disease in some cases but not in others.
He said Charlotte had the disease in her brain, spinal cord, and gut. It had also affected her eyesight. “The brain is a big worry because a burst vessel could cause a stroke,” he said. “The only treatment Charlotte is on at the moment is aspirin to thin her blood, and a lot of painkillers because her legs get quite numb and sore.”
A petition Declan started at www.change.org midweek already has more than 1,000 supporters.
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